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There are 8500 results for: content related to: Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation

  1. Immunologic assessment and KMT2D mutation detection in Kabuki syndrome

    Clinical Genetics

    Volume 88, Issue 3, September 2015, Pages: 255–260, J.-L. Lin, W.-I. Lee, J.-L. Huang, P. K.-T. Chen, K.-C. Chan, L.-J. Lo, Y.-J. You, Y.-F. Shih, T.-Y. Tseng and M.-C. Wu

    Article first published online : 13 OCT 2014, DOI: 10.1111/cge.12484

  2. Myhre syndrome

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 503–513, C. Le Goff, C. Michot and V. Cormier-Daire

    Article first published online : 2 APR 2014, DOI: 10.1111/cge.12365

  3. Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet–Biedl syndrome

    Clinical Genetics

    E. N. Kerr, A. Bhan and E. Héon

    Article first published online : 16 JUN 2015, DOI: 10.1111/cge.12614

  4. National mutation study among Danish patients with hereditary haemorrhagic telangiectasia

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 123–133, P.M. Tørring, K. Brusgaard, L.B. Ousager, P.E. Andersen and A.D. Kjeldsen

    Article first published online : 3 OCT 2013, DOI: 10.1111/cge.12269

  5. Alpha-mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive function

    Clinical Genetics

    L. Borgwardt, E.R. Danielsen, C. Thomsen, J.E. Månsson, N. Taouatas, A.M. Thuesen, K.J. Olsen, J. Fogh, C.I. Dali and A.M. Lund

    Article first published online : 4 SEP 2015, DOI: 10.1111/cge.12642

  6. Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome

    Clinical Genetics

    Volume 87, Issue 6, June 2015, Pages: 507–516, G. Ponti, E. Castellsagué, C. Ruini, A. Percesepe and A. Tomasi

    Article first published online : 9 DEC 2014, DOI: 10.1111/cge.12529

  7. Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys–Dietz syndrome and phenotype–genotype correlations

    Clinical Genetics

    Volume 86, Issue 6, December 2014, Pages: 552–557, C. Pees, I. Michel-Behnke, M. Hagl and F. Laccone

    Article first published online : 4 DEC 2013, DOI: 10.1111/cge.12314

  8. Genetic testing for RAD51C mutations: in the clinic and community

    Clinical Genetics

    Volume 88, Issue 4, October 2015, Pages: 303–312, V. Sopik, M.R. Akbari and S.A. Narod

    Article first published online : 7 JAN 2015, DOI: 10.1111/cge.12548

  9. Coffin–Siris syndrome is a SWI/SNF complex disorder

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 548–554, Y. Tsurusaki, N. Okamoto, H. Ohashi, S. Mizuno, N. Matsumoto, Y. Makita, M. Fukuda, B. Isidor, J. Perrier, S. Aggarwal, A.B. Dalal, A. Al-Kindy, J. Liebelt, D. Mowat, M. Nakashima, H. Saitsu, N. Miyake and N. Matsumoto

    Article first published online : 23 JUL 2013, DOI: 10.1111/cge.12225

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    Genetics of the corneal endothelial dystrophies: an evidence-based review

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 109–119, A J Aldave, J Han and R F Frausto

    Article first published online : 10 JUN 2013, DOI: 10.1111/cge.12191

  11. The psychological impact of breast and ovarian cancer preventive options in BRCA1 and BRCA2 mutation carriers

    Clinical Genetics

    Volume 85, Issue 1, January 2014, Pages: 7–15, C Borreani, S Manoukian, E Bianchi, C Brunelli, B Peissel, A Caruso, G Morasso and MA Pierotti

    Article first published online : 5 NOV 2013, DOI: 10.1111/cge.12298

  12. X-chromosome inactivation in female patients with Fabry disease

    Clinical Genetics

    L. Echevarria, K. Benistan, A. Toussaint, O. Dubourg, A.A. Hagege, D. Eladari, F. Jabbour, C. Beldjord, P. De Mazancourt and D.P. Germain

    Article first published online : 22 JUN 2015, DOI: 10.1111/cge.12613

  13. Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

    Clinical Genetics

    A.M. McInerney-Leo, J.E. Harris, P.J. Leo, M.S. Marshall, B. Gardiner, E. Kinning, H.Y. Leong, F. McKenzie, W.P. Ong, J. Vodopiutz, C. Wicking, M.A. Brown, A. Zankl and E.L. Duncan

    Article first published online : 17 FEB 2015, DOI: 10.1111/cge.12550

  14. Diagnostic algorithms in Charcot–Marie–Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

    Clinical Genetics

    S. Rudnik-Schöneborn, D. Tölle, J. Senderek, K. Eggermann, M. Elbracht, U. Kornak, M. von der Hagen, J. Kirschner, B. Leube, W. Müller-Felber, U. Schara, K. von Au, D. Wieczorek, C. Bußmann and K. Zerres

    Article first published online : 29 APR 2015, DOI: 10.1111/cge.12594

  15. Phenylalanine hydroxylase deficiency in Mexico: genotype–phenotype correlations, BH4 responsiveness and evidence of a founder effect

    Clinical Genetics

    Volume 88, Issue 1, July 2015, Pages: 62–67, M. Vela-Amieva, M. Abreu-González, A. González-del Angel, I. Ibarra-González, C. Fernández-Lainez, R. Barrientos-Ríos, S. Monroy-Santoyo, S. Guillén-López and M.A. Alcántara-Ortigoza

    Article first published online : 26 JUL 2014, DOI: 10.1111/cge.12444

  16. Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders

    Clinical Genetics

    Volume 87, Issue 5, May 2015, Pages: 430–439, A. Chaussenot, C. Rouzier, M. Quere, M. Plutino, S. Ait-El-Mkadem, S. Bannwarth, M. Barth, H. Dollfus, P. Charles, M. Nicolino, B. Chabrol, B. Vialettes and V. Paquis-Flucklinger

    Article first published online : 6 AUG 2014, DOI: 10.1111/cge.12437

  17. Cornelia de Lange syndrome

    Clinical Genetics

    Volume 88, Issue 1, July 2015, Pages: 1–12, M.I. Boyle, C. Jespersgaard, K. Brøndum-Nielsen, A.-M. Bisgaard and Z. Tümer

    Article first published online : 28 OCT 2014, DOI: 10.1111/cge.12499

  18. Genetics of hypertrophic cardiomyopathy in Norway

    Clinical Genetics

    Volume 86, Issue 4, October 2014, Pages: 355–360, K.E. Berge and T.P. Leren

    Article first published online : 23 OCT 2013, DOI: 10.1111/cge.12286

  19. Phenotype–genotype correlations in patients with Marinesco–Sjögren syndrome

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 74–84, F. Ezgu, P. Krejci, S. Li, C. de Sousa, J.M. Graham Jr, I. Hansmann, W. He, K. Porpora, D. Wand, W. Wertelecki, A. Schneider and W.R. Wilcox

    Article first published online : 30 JUL 2013, DOI: 10.1111/cge.12230

  20. Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 142–148, E. Weh, L.M. Reis, R.C. Tyler, D. Bick, W.J. Rhead, S. Wallace, T.L. McGregor, S.K. Dills, M.-C. Chao, J.C. Murray and E.V. Semina

    Article first published online : 17 SEP 2013, DOI: 10.1111/cge.12241